Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

• Prif Awduron: Maryam Sobhani (Awdur), Mohammad Amin Tabatabaiefar (Awdur), Soudeh Ghafouri-Fard (Awdur), Asadollah Rajab (Awdur), Asal Hojjat (Awdur), Abdol-Mohammad Kajbafzadeh (Awdur), Mohammad Reza Noori-Daloii (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2020-01-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Abstract Background Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic...